Canonical Allele Identifier: CA9351887

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 1099312
• ClinVar RCV Id: RCV001421551
• dbSNP Id: rs749962129
• ExAC: 19:30193733 G / A
• gnomAD v2: 19-30193733-G-A
• gnomAD v3: 19-29702826-G-A
• gnomAD v4: 19-29702826-G-A
• MyVariant Identifiers: chr19:g.30193733G>A (hg19) ; chr19:g.29702826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702826G>A , CM000681.2:g.29702826G>A	GRCh38
NC_000019.9:g.30193733G>A , CM000681.1:g.30193733G>A	GRCh37
NC_000019.8:g.34885573G>A	NCBI36
NG_031970.1:g.17964C>T
NG_031970.2:g.17964C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614091.5:c.312C>T	ENSP00000482097.2:p.Ala104=
ENST00000623113.3:c.312C>T	ENSP00000485413.2:p.Ala104=
ENST00000323670.14:c.312C>T MANE Select	ENSP00000313332.9:p.Ala104=
ENST00000323670.13:c.312C>T	ENSP00000313332.8:p.Ala104=
ENST00000392275.1:n.703C>T
ENST00000392276.1:c.120C>T	ENSP00000376102.1:p.Ala40=
ENST00000392278.2:c.345C>T	ENSP00000376103.2:p.Ala115=
ENST00000591243.1:c.312C>T	ENSP00000467516.1:p.Ala104=
ENST00000592153.5:c.290+22C>T	ENSP00000467117.1:n.290+22C>T
ENST00000614091.4:c.312C>T	ENSP00000482097.1:p.Ala104=
ENST00000623113.1:c.120C>T	ENSP00000485413.1:p.Ala40=
NM_001031726.3:c.345C>T	NP_001026896.2:p.Ala115=
NM_001256046.1:c.290+22C>T	NP_001242975.1:n.290+22C>T
NM_001256047.1:c.312C>T	NP_001242976.1:p.Ala104=
NM_001282929.1:c.120C>T	NP_001269858.1:p.Ala40=
NM_001282930.1:c.120C>T	NP_001269859.1:p.Ala40=
NM_001282931.1:c.120C>T	NP_001269860.1:p.Ala40=
NM_031448.4:c.312C>T	NP_113636.2:p.Ala104=
XM_024451734.1:c.474C>T	XP_024307502.1:p.Ala158=
XM_024451735.1:c.312C>T	XP_024307503.1:p.Ala104=
XM_024451736.1:c.312C>T	XP_024307504.1:p.Ala104=
XM_024451737.1:c.312C>T	XP_024307505.1:p.Ala104=
XM_024451738.1:c.312C>T	XP_024307506.1:p.Ala104=
NM_001256046.2:c.290+22C>T	NP_001242975.1:n.290+22C>T
NM_001282930.2:c.120C>T	NP_001269859.1:p.Ala40=
NM_001282931.2:c.120C>T	NP_001269860.1:p.Ala40=
NM_031448.6:c.312C>T MANE Select	NP_113636.2:p.Ala104=
NM_001031726.4:c.312C>T	NP_001026896.3:p.Ala104=
NM_001256046.3:c.290+22C>T	NP_001242975.1:n.290+22C>T
NM_001256047.2:c.312C>T	NP_001242976.1:p.Ala104=
NM_001282930.3:c.120C>T	NP_001269859.1:p.Ala40=
NM_001282931.3:c.120C>T	NP_001269860.1:p.Ala40=